Canonical Allele Identifier: CA290717967

Gene: HCRT

Linked Data

• dbSNP Id: rs985601375
• gnomAD v2: 17-40336667-G-A
• gnomAD v3: 17-42184649-G-A
• gnomAD v4: 17-42184649-G-A
• MyVariant Identifiers: chr17:g.40336667G>A (hg19) ; chr17:g.42184649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184649G>A , CM000679.2:g.42184649G>A	GRCh38
NC_000017.10:g.40336667G>A , CM000679.1:g.40336667G>A	GRCh37
NC_000017.9:g.37590193G>A	NCBI36
NG_011448.1:g.5804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22-121C>T MANE Select	ENSP00000293330.1:n.22-121C>T
NM_001524.1:c.22-121C>T MANE Select	NP_001515.1:n.22-121C>T